Variant report

Variant	rs3849393
Chromosome Location	chr2:73206356-73206357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73202655..73205127-chr2:73205288..73207523,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1046183	0.90[JPT][hapmap];0.85[TSI][hapmap]
rs10496188	0.96[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13404068	0.84[JPT][hapmap]
rs17008541	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17008565	0.83[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17008579	0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17008608	0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2421099	0.90[JPT][hapmap]
rs58731407	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59108557	0.81[EUR][1000 genomes]
rs61164794	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61652727	0.81[EUR][1000 genomes]
rs62147718	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62147722	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62147726	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62147727	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62147728	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62147731	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62147733	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62147735	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62148129	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62148130	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66570372	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6710911	0.83[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6753054	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6753133	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6753301	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67673165	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73161400-73210200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:73166200-73210000	Weak transcription	Colonic Mucosa	Colon
3	chr2:73167600-73207400	Weak transcription	A549	lung
4	chr2:73168800-73226800	Weak transcription	NHLF	lung
5	chr2:73169200-73210600	Weak transcription	Pancreas	Pancrea
6	chr2:73169800-73210000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:73171200-73209400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:73176600-73227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:73177400-73209800	Weak transcription	Esophagus	oesophagus
10	chr2:73177400-73215200	Weak transcription	Osteobl	bone
11	chr2:73178000-73214800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:73181800-73215200	Weak transcription	Thymus	Thymus
13	chr2:73182800-73213000	Weak transcription	Fetal Lung	lung
14	chr2:73183200-73228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:73185000-73214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:73188000-73209600	Weak transcription	Right Atrium	heart
17	chr2:73188800-73211600	Weak transcription	Primary T cells from cord blood	blood
18	chr2:73189600-73207400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:73189800-73207200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:73190600-73234400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:73191400-73208000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:73191600-73209800	Weak transcription	Aorta	Aorta
23	chr2:73192000-73207200	Weak transcription	HSMM	muscle
24	chr2:73193400-73210200	Weak transcription	Adipose Nuclei	Adipose
25	chr2:73193600-73207200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:73193600-73208200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:73193600-73221200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:73193800-73207200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:73194400-73207200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:73194400-73207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:73194400-73210400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:73194400-73211400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:73194600-73209800	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:73194600-73210600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:73195200-73210400	Weak transcription	Fetal Intestine Large	intestine
37	chr2:73195600-73210000	Weak transcription	Fetal Stomach	stomach
38	chr2:73197400-73210000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:73198600-73207200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:73198600-73220000	Weak transcription	Small Intestine	intestine
41	chr2:73198800-73209600	Weak transcription	Lung	lung
42	chr2:73199000-73207200	Weak transcription	Spleen	Spleen
43	chr2:73199600-73209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:73199600-73209600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:73199600-73209800	Weak transcription	Gastric	stomach
46	chr2:73199600-73210000	Weak transcription	Brain Substantia Nigra	brain
47	chr2:73199600-73210000	Weak transcription	HepG2	liver
48	chr2:73200800-73210200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:73201000-73207000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:73201000-73208000	Weak transcription	Right Ventricle	heart

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